Non-homologous end-joining factor 1
| NHEJ1 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 2: 219.08 – 219.16 Mb | Chr 1: 75.01 – 75.1 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Non-homologous end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF), is a
Phenotypes
In contrast to the profound immunodeficiency phenotype of XLF deletion in humans, deletion of XLF alone has a mild phenotype in mice.
Structure
XLF is structurally similar to
Interactions
XLF has been shown to
Hematopoietic stem cell aging
Deficiency of NHEJ1 in mice leads to premature aging of hematopoietic stem cells as indicated by several lines of evidence including evidence that long-term repopulation is defective and worsens over time.[18] Using a human induced pluripotent stem cell model of NHEJ1 deficiency, it was shown that NHEJ1 has an important role in promoting survival of the primitive hematopoietic progenitors.[19] These NHEJ1 deficient cells possess a weak NHEJ1-mediated repair capacity that is apparently incapable of coping with DNA damages induced by physiological stress, normal metabolism, and ionizing radiation.[19]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000187736 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026162 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: NHEJ1 nonhomologous end-joining factor 1".
- S2CID 13075378.
- PMID 16571728.
- PMID 18775323.
- PMID 21160472.
- PMID 18158905.
- PMID 17567543.
- PMID 18064046.
- PMID 23620595.
- PMID 17317666.
- ^ PMID 22287571.
- S2CID 8814152.
- PMID 21768349.
- PMID 25075129.
- ^ S2CID 3623309.
Further reading
- Pastwa E, Malinowski M (May 2007). "Non-homologous DNA end joining in anticancer therapy". PMID 17504121.
- Dai Y, Kysela B, Hanakahi LA, Manolis K, Riballo E, Stumm M, Harville TO, West SC, Oettinger MA, Jeggo PA (Mar 2003). "Nonhomologous end joining and V(D)J recombination require an additional factor". Proceedings of the National Academy of Sciences of the United States of America. 100 (5): 2462–7. PMID 12604777.
- Buck D, Malivert L, de Chasseval R, Barraud A, Fondanèche MC, Sanal O, Plebani A, Stéphan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P (Jan 2006). "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly". Cell. 124 (2): 287–99. S2CID 13075378.
- Ahnesorg P, Smith P, Jackson SP (Jan 2006). "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining". Cell. 124 (2): 301–13. S2CID 12902760.
- Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP (May 2006). "Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1". The Journal of Biological Chemistry. 281 (20): 13857–60. PMID 16571728.
- Revy P, de Villartay JP (2006). "[Cernunnos, a novel DNA repair factor essential for the immune system]". Médecine/Sciences. 22 (6–7): 569–70. PMID 16828027.
- Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L (Apr 2007). "Truncation of NHEJ1 in a patient with polymicrogyria". Human Mutation. 28 (4): 356–64. S2CID 15221701.
- Lu H, Pannicke U, Schwarz K, Lieber MR (Apr 2007). "Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity". The Journal of Biological Chemistry. 282 (15): 11155–62. PMID 17317666.
- Tsai CJ, Kim SA, Chu G (May 2007). "Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends". Proceedings of the National Academy of Sciences of the United States of America. 104 (19): 7851–6. PMID 17470781.
- Deshpande RA, Wilson TE (Oct 2007). "Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4". DNA Repair. 6 (10): 1507–16. PMID 17567543.
- Wu PY, Frit P, Malivert L, Revy P, Biard D, Salles B, Calsou P (Nov 2007). "Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell". The Journal of Biological Chemistry. 282 (44): 31937–43. PMID 17720816.